This 30-year-old primigravida was referred to our antenatal unit at 24 weeks due to a diaphragmatic hernia. At 13 weeks the nuchal translucency was normal (0.5 mm). The triple test was also normal at 16 weeks. A detailed scan at 22 weeks revealed a left diaphragmatic hernia. At 24 weeks the stomach was near the mediastinum and the heart was on the right side of the chest, with a left apex direction. At 26 weeks the fetal anomalies were unchanged. The cardiac anatomy was normal, except for the dextroposition. The aorta and pulmonary artery were normally positioned.

An amniocentesis was performed with a normal result (karyotype was 46 XX). After genetic and pediatric surgical counseling, the parents decided to continue the pregnancy. At 29 weeks the cardiac rhythm was normal. The baby was born at 38 weeks by cesarean section (2500g, Apgar 1). The external morphology analysis of the baby was normal. The baby was immediately intubated and hospitalized in the neonatal unit but he developed a pneumothorax rapidly. He died after 24 hours. Pathology was refused.